3 autopsy cases of adult pigment type (Peiffer) of familial sudanophilic leukodystrophy
Yamadera, H.; Okeda, R.; Amakawa, T.; Murofushi, K.; Eishi, Y.; Yamamoto, K.; Ishiguro, T.; Takahashi, Y.; Kojima, T.; Shimazono, Y.
Seishin Shinkeigaku Zasshi 87(2): 93-113
1985
ISSN/ISBN: 0033-2658 PMID: 4034793 Document Number: 252642
Three autopsy cases of adult pigment type (Peiffer) of sudanophilic leukodystrophy were reported. The proband was a 41-yr-old housewife, who had progressive gait disturbance, change of character, convulsion and presenile dementia. The total duration of clinical course was 54 mo. The 2nd case was a 22-yr-old student, in whom motor disturbance, convulsion and presenile dementia developed; he did after 127 mo. The 3rd case was a 47-yr-old teacher. His major clinical symptoms were paraplegia, change of character and prensile dementia. Duration of the clinical course was 96 mo. The neuropathological examination in these 3 cases revealed diffuse demyelination with brown discoloration in their white matter, especially in the centrosemiovale. Histologically, many sudanophilic lipofuscin-like lipid granules, hemosiderin pigments and poor mobilization of scavenger cells suggestive of retarded elimination of destroyed myelin were found there. Metachromatic lipid granules, globoid cells and inflammatory cell infiltration were not recognized. Their adrenal glands did not show any specific findings. In the 3rd case, the biochemical analysis of the autopsied brain did not show any specific changes of the lipid components and fatty acids. Therefore, all of the 3 cases were diagnosed as adult pigment type (Peiffer) of sudanophilic leukodystrophy or van Bogaert-Nyssen type of leukodystrophy. Deposition of massive lipofuscin-like lipids and hemosiderin granules in the demyelinated area may be characteristic of this type of sudanophilic leukodystrophy and the pigment type should be discriminated from the simple type at least pathologically. In addition, the mental and neurological symptoms and familial onset of this type of sudanophilic leukodystrophy were discussed by comparing with the other reported cases.